Incidental Mutation 'IGL00962:Fkbp10'
ID 28604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp10
Ensembl Gene ENSMUSG00000001555
Gene Name FK506 binding protein 10
Synonyms Fkbp-rs1, Fkbp1-rs, FKBP65, Fkbp6, 65kDa
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00962
Quality Score
Status
Chromosome 11
Chromosomal Location 100306523-100315650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100312643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 300 (T300A)
Ref Sequence ENSEMBL: ENSMUSP00000001595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000107398] [ENSMUST00000107399] [ENSMUST00000107400]
AlphaFold Q61576
Predicted Effect probably benign
Transcript: ENSMUST00000001595
AA Change: T300A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: T300A

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:FKBP_C 54 146 5.4e-30 PFAM
Pfam:FKBP_C 166 258 4e-29 PFAM
Pfam:FKBP_C 278 370 2.3e-28 PFAM
Pfam:FKBP_C 391 482 6.2e-26 PFAM
EFh 503 528 2.16e0 SMART
EFh 545 573 2.04e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107398
SMART Domains Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 44 261 3.5e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107399
SMART Domains Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 44 261 3.5e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107400
SMART Domains Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:FKBP_C 54 146 1.4e-29 PFAM
Pfam:FKBP_C 166 258 2e-29 PFAM
Pfam:FKBP_C 279 370 4.9e-26 PFAM
EFh 391 416 2.16e0 SMART
EFh 433 461 2.04e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125616
Predicted Effect probably benign
Transcript: ENSMUST00000134815
SMART Domains Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
Pfam:FKBP_C 34 65 1.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139084
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,564,723 (GRCm39) probably null Het
Atp8b1 C T 18: 64,664,515 (GRCm39) A1218T probably damaging Het
AY761185 T C 8: 21,434,611 (GRCm39) D39G possibly damaging Het
Fam167a G A 14: 63,699,904 (GRCm39) E155K probably damaging Het
Fat3 C T 9: 15,826,815 (GRCm39) G4379D probably benign Het
Gm6665 T C 18: 31,953,204 (GRCm39) K57R probably benign Het
Gnb4 T C 3: 32,647,318 (GRCm39) T86A probably benign Het
H2-Q2 A G 17: 35,561,825 (GRCm39) Y105C probably damaging Het
Ighv1-75 A G 12: 115,797,883 (GRCm39) probably benign Het
Ilvbl A G 10: 78,419,172 (GRCm39) T474A possibly damaging Het
Shld2 A T 14: 33,971,208 (GRCm39) V559E probably damaging Het
Slc45a3 T A 1: 131,905,265 (GRCm39) V96D probably damaging Het
Tmtc3 C T 10: 100,307,815 (GRCm39) G201R probably damaging Het
Tnfsf14 G A 17: 57,499,906 (GRCm39) Q83* probably null Het
Trpm2 A G 10: 77,779,750 (GRCm39) probably benign Het
Ubr5 A T 15: 37,986,178 (GRCm39) F2219I probably damaging Het
Utrn C T 10: 12,357,078 (GRCm39) V2747I possibly damaging Het
Vcan T C 13: 89,810,171 (GRCm39) N3207D probably damaging Het
Vmn1r35 A G 6: 66,656,361 (GRCm39) V103A possibly damaging Het
Vmn2r97 A G 17: 19,149,490 (GRCm39) T293A probably damaging Het
Wdr35 A G 12: 9,071,726 (GRCm39) probably benign Het
Other mutations in Fkbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02390:Fkbp10 APN 11 100,306,843 (GRCm39) missense probably damaging 1.00
IGL02424:Fkbp10 APN 11 100,306,782 (GRCm39) missense probably damaging 1.00
IGL02728:Fkbp10 APN 11 100,306,803 (GRCm39) missense probably damaging 1.00
IGL02737:Fkbp10 APN 11 100,313,481 (GRCm39) missense probably benign 0.25
IGL03143:Fkbp10 APN 11 100,313,580 (GRCm39) missense probably benign 0.06
R0479:Fkbp10 UTSW 11 100,306,740 (GRCm39) missense probably damaging 1.00
R1733:Fkbp10 UTSW 11 100,314,757 (GRCm39) missense probably benign 0.20
R1817:Fkbp10 UTSW 11 100,306,715 (GRCm39) missense probably benign 0.13
R1819:Fkbp10 UTSW 11 100,306,715 (GRCm39) missense probably benign 0.13
R1831:Fkbp10 UTSW 11 100,314,045 (GRCm39) missense probably damaging 1.00
R1997:Fkbp10 UTSW 11 100,306,841 (GRCm39) missense probably damaging 1.00
R2017:Fkbp10 UTSW 11 100,312,499 (GRCm39) missense possibly damaging 0.77
R3758:Fkbp10 UTSW 11 100,313,451 (GRCm39) critical splice acceptor site probably null
R5163:Fkbp10 UTSW 11 100,313,925 (GRCm39) missense probably benign 0.03
R5437:Fkbp10 UTSW 11 100,311,849 (GRCm39) missense probably damaging 1.00
R5666:Fkbp10 UTSW 11 100,314,352 (GRCm39) missense probably damaging 1.00
R5696:Fkbp10 UTSW 11 100,314,352 (GRCm39) missense probably damaging 1.00
R5698:Fkbp10 UTSW 11 100,314,352 (GRCm39) missense probably damaging 1.00
R5706:Fkbp10 UTSW 11 100,311,849 (GRCm39) missense probably damaging 1.00
R7084:Fkbp10 UTSW 11 100,312,129 (GRCm39) missense possibly damaging 0.56
R7405:Fkbp10 UTSW 11 100,306,707 (GRCm39) missense probably damaging 1.00
R7780:Fkbp10 UTSW 11 100,312,048 (GRCm39) missense probably damaging 1.00
R8237:Fkbp10 UTSW 11 100,306,785 (GRCm39) missense probably damaging 1.00
R8886:Fkbp10 UTSW 11 100,312,862 (GRCm39) missense probably damaging 1.00
R8978:Fkbp10 UTSW 11 100,313,936 (GRCm39) missense probably benign 0.19
R9484:Fkbp10 UTSW 11 100,313,960 (GRCm39) missense probably damaging 1.00
R9505:Fkbp10 UTSW 11 100,306,826 (GRCm39) nonsense probably null
R9590:Fkbp10 UTSW 11 100,306,785 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17